Primary Immune Deficiency DisorderNCT03414528
Identification of New Inborn Errors of Immunity
An observational study of Primary Immune Deficiency Disorder, run by University of Zurich at 1 site in Switzerland.
Trial summary
Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing. Transcriptome analysis of patients with molecularly undetermined PID. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Primary Immune Deficiency Disorder
- What is being tested?
- Diagnostic Test
- How many people
- 9 participants
- Where
- 1 siteSwitzerland
- Study dates
- 23 Sep 2016to 31 Aug 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with unidentified inborn error of immunity (primary immunodeficiency, PID) or optionally healthy direct relatives, to determine whether they are carriers of the disease
Who may be able to join
- Patients with primary immunodeficiency (PID)
- Male and Female participants 0 years to adult age (any)
- Written informed consent by the participant after information about the research project
Who cannot join
- Secondary immunodeficiency
- Refusal to enter the study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing.
Transcriptome analysis of patients with molecularly undetermined PID.
- Conditions
- Primary Immune Deficiency Disorder
- Being tested
- Diagnostic Test
- Medical subject headings
- Primary Immunodeficiency Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Diagnostic TestDiagnostic test
Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing Transcriptome analysis of patients with molecularly undetermined PID
| Study group | Role | What they receive |
|---|---|---|
| Patients with PID | Not described Receives: Diagnostic Test: Diagnostic Test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of the genetic defects
Whole exome/Genome sequencing will be done to identify new mutations leading to immunodeficiency
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jan 2018
- Study start23 Sep 2016
- Primary completion31 Aug 2025
- Study completion31 Aug 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Immune Deficiency DisorderStudies of the same condition, open and under way.
- More trials run by University of ZurichThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 9 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Zurich
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Janine Reichenbach, University of Zurich
- Investigators
- Janine Reichenbach, Prof. Dr., Principal investigator, University Children's Hospital, Zurich
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03414528
- Sponsor's protocol ID
- Ident_PID
- Status last verified
- May 2026
- First submitted
- 10 Jan 2018
- Last updated
- 6 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: We are planning to share IPD in the form of Scientific publications in peer-reveiwed journals and communications at Scientific meetings
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
- ClinicalTrials.gov ID
- NCT03414528
- Acronym / sponsor ID
- Ident_PID
- Conditions
- Primary Immune Deficiency Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 9 participants (actual)
- Lead sponsor
- University of ZurichUniversity, hospital or other
- Study start
- 23 Sep 2016 (actual)
- Primary completion
- 31 Aug 2025 (actual)
- Study completion
- 31 Aug 2025 (actual)
- First posted
- 30 Jan 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing.
Transcriptome analysis of patients with molecularly undetermined PID.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with PID | – | Diagnostic Test: Diagnostic Test |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with unidentified inborn error of immunity (primary immunodeficiency, PID) or optionally healthy direct relatives, to determine whether they are carriers of the disease
Key inclusion criteria (3 listed)
- Patients with primary immunodeficiency (PID)
- Male and Female participants 0 years to adult age (any)
- Written informed consent by the participant after information about the research project
Key exclusion criteria (2 listed)
- Secondary immunodeficiency
- Refusal to enter the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Diagnostic TestAnalysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing Transcriptome analysis of patients with molecularly undetermined PID | Diagnostic test | Patients with PID |
Primary outcome
Identification of the genetic defects
Time frame: 10 years
Whole exome/Genome sequencing will be done to identify new mutations leading to immunodeficiency
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2026.
- Individual participant dataSharing planned: Undecided. We are planning to share IPD in the form of Scientific publications in peer-reveiwed journals and communications at Scientific meetings
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Janine Reichenbach, Prof. Dr. principal investigator
University Children's Hospital, Zurich
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Immune Deficiency Disorder, run by University of Zurich at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of the genetic defects (time frame: 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 May 2026.